Familial Meniere Disease
Gene: DTNAThe same family segragated another mutation in FAM136A.
The missense mutation in the DTNA gene produces a novel splice site which skips exon 21 and leads to a shorter alternative transcript. This variant has been found in another unrelated individual with episodic vertigo in the spanish populationCreated: 20 Feb 2018, 5:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Meniere disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Rated as Amber with watchlist tag. One published case of a single family with variant in this gene plus another variant in FAM136A . Also one unpublished case in an unrelated individual with episodic vertigo.Created: 21 Mar 2018, 10:20 a.m.
Added tag of watchlist since two cases now reported (1 by reviewer)Created: 21 Mar 2018, 10:15 a.m.
Comment on publications: Added publication as recommended as reviewers.Created: 8 Feb 2018, 5:09 p.m.
Comment on mode of inheritance: Added MOI based on reviewer comment. Note evidence only in one published family to date.Created: 8 Feb 2018, 5:04 p.m.
Added tag of multifactorial in response to reviewer comments. 2018-02-08.Created: 8 Feb 2018, 5:02 p.m.
Variant was not found in Exome variant server databases. Author suggests multifactorial etiology in this familyCreated: 28 Jan 2018, 9:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Mechanism of action unknown.
Single family describedCreated: 24 Jan 2018, 10:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Mode of pathogenicity
Other
External reviews collated. Internal clinical input. Ready for version 1.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for DTNA were set to Meniere disease
Publications for DTNA were set to 28787010; 25305078
Mode of inheritance for DTNA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Literature was added to DTNA. Panel: Familial Meniere Disease Publications for gene DTNA was set to ['28787010']
DTNA was added to Familial Meniere Disease panel. Sources: Other
DTNA was created by Eleanor Williams